A Novel Mutation of Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Table 1

Timeline.

History
Family: unremarkable. Obstetric: mild gestational diabetes. Perinatal: unremarkable
Age	Clinical findings	Diagnostic tests	Interventions	Diagnosis outcome
14^th day	Polyuria, dehydration, no malformations	Metabolic acidosis, hypernatremia, direct hyperbilirubinemia, abnormal urine excretion of electrolytes, glycosuria, increased PTL, anemia	IV fluids, electrolytes and sodium bicarbonate, feeding via an orogastric catheter	Renal tubular acidosis with Fanconi syndrome, neonatal cholestasis
44^th day	Klebsiella sepsis, persisting polyuria, growth retardation, hypotonia	As above plus aminoaciduria. Negative desmopressin test. Head US: thin corpus callosum. DNA tests ordered	As above plus antibiotics, vitamins D, E, and K, and ursodeoxycholic acid. Intravenous catheter	Incomplete ARC with nephrogenic diabetes insipidus, sepsis
3^rd–5^th month	Recurrent febrile episodes and catheter-related sepsis, polyuria partly responding to hydrochlorothiazide, delayed neurodevelopment	Increasing direct bilirubin and transaminase levels cerebral MRI: hypoplastic corpus callosum; Homozygosity for mutation	As above plus hydrochlorothiazide, jejunostomy for enteral feeding	Genetically confirmed ARC syndrome
7^th month	Persisting Candida albicans sepsis, multiorgan failure	Further increasing direct bilirubin and transaminase levels	As above plus antifungal and supportive treatment	Death